U.S. flag

An official website of the United States government

NM_001384474.1(LOXHD1):c.3350+1G>A AND Autosomal recessive nonsyndromic hearing loss 77

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 3, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001828818.1

Allele description [Variation Report for NM_001384474.1(LOXHD1):c.3350+1G>A]

NM_001384474.1(LOXHD1):c.3350+1G>A

Gene:
LOXHD1:lipoxygenase homology PLAT domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.1
Genomic location:
Preferred name:
NM_001384474.1(LOXHD1):c.3350+1G>A
HGVS:
  • NC_000018.10:g.46557355C>T
  • NG_016646.2:g.104679G>A
  • NM_001145472.3:c.17+1G>A
  • NM_001384474.1:c.3350+1G>AMANE SELECT
  • NM_144612.7:c.3350+1G>A
  • NC_000018.9:g.44137318C>T
  • NM_144612.6:c.3350+1G>A
Links:
dbSNP: rs1301706601
NCBI 1000 Genomes Browser:
rs1301706601
Molecular consequence:
  • NM_001145472.3:c.17+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001384474.1:c.3350+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_144612.7:c.3350+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 77
Synonyms:
Deafness, autosomal recessive 77
Identifiers:
MONDO: MONDO:0013119; MedGen: C2746083; Orphanet: 90636; OMIM: 613079

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002086311Natera, Inc.
no assertion criteria provided
Likely pathogenic
(Jun 3, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002086311.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024